Varaico: Literature-Extracted Genetic Variants

Gene:HEMK1
Variant:p.V318E

HEMK1

16 papers

Pfam Domains

PrmC_Naa 43–115UCSCPrmC N-terminal domain
MTSaa 154–256UCSCMethyltransferase small domain

Gene Aliases

HGNC Name

HemK methyltransferase 1, mitochondrial release factors N(5)-glutamine

HGNC Alias Symbol

MTQ1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_016173.5
p.V318E
c.953T>A
Surrounding Variants
1 paper
NM_016173.5
p.R310Q
c.929G>A
1 paper
NM_016173.5
p.L307delFs
c.921delT
1 paper
NM_016173.5
p.G266G
c.798T>G
1 paper
NM_016173.5
p.Y258C
c.773A>G
1 paper
NM_016173.5
p.S257R
c.771C>A
1 paper
NM_016173.5
p.S257R
c.771C>G
1 paper
NM_016173.5
p.S257R
c.769A>C
1 paper
NM_016173.5
p.R205Splc
c.615-92C>A
1 paper
NM_016173.5
p.H200Q
c.600T>G
1 paper
NM_016173.5
p.L198V
c.592C>G
2 papers
NM_016173.5
p.A188S
c.562G>T
1 paper
NM_016173.5
p.L164L
c.490C>T
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